ADENOSINE KINASE DEFICIENCY

Question 1

What is  ADENOSINE KINASE DEFICIENCY?

Accepted Answer

very rare (6 cases)
autosomal recessive
mutation in the ADK gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Adenosinkinase-Mangel, Enzephalopathie bei Hypermethioninämie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614300

Question 4

Which enzymes are involved?

Accepted Answer

adenosine kinase

Disease	ADENOSINE KINASE DEFICIENCY
Synonym	Hypermethionia due to adenosine kinase deficiency
OMIM	614300 OMIM = Online Mendelian Inheritance of Men
Orphanet	289290
Protein (UniProt)	adenosine kinase
ExPASy	2.7.1.20
Gene locus	10q22.2
ICD	E72.1
Summary	very rare (6 cases) autosomal recessive mutation in the ADK gene
Laboratory findings	Methionine inc (plasma) S-Adenosylmethionine inc (plasma) Adenosine inc (urine) Adenosine inc (plasma) Bilirubin, conjugated inc (serum) Creatine kinase normal/inc (plasma) D-Glucose dec (plasma) Homocysteine normal/inc (plasma) S-Adenosylhomocysteine inc (plasma)
Symptoms	cardiac involvement, cardiac defects cholestasis developmental delay failure to thrive frontal bossing hearing defect, deafness hyperinsulinism hypertelorism hypoglycemia hypotonia liver involvement or dysfunction macrocephaly (large calvaria, >2 SD for age) mental retardation muscle weakness onset, infancy onset, neonatal seizures